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CFTR c.295_296delinsTG ;(p.P99C)
Variant ID: 7-117170974-CC-TG
NM_000492.3(
CFTR
):c.295_296delinsTG;(p.P99C)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Cysteine scanning of CFTR's first transmembrane segment reveals its plausible roles in gating and permeation.
Biophysical Journal
Gao, Xiaolong X; Bai, Yonghong Y; Hwang, Tzyh-Chang TC
Publication Date: 2013-02-19
Variant appearance in text: CFTR: P99C
PubMed Link:
23442957
Variant Present in the following documents:
Main text
View BVdb publication page
Alignment of transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.
The Journal Of General Physiology
Wang, Wuyang W; El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2011-08
Variant appearance in text: CFTR: P99C
PubMed Link:
21746847
Variant Present in the following documents:
Main text
JGP_201110605.pdf
View BVdb publication page
Application of high-resolution single-channel recording to functional studies of cystic fibrosis mutants.
Methods In Molecular Biology (Clifton, N.J.)
Cai, Zhiwei Z; Sohma, Yoshiro Y; Bompadre, Silvia G SG; Sheppard, David N DN; Hwang, Tzyh-Chang TC
Publication Date: 2011
Variant appearance in text: CFTR: P99C
PubMed Link:
21594800
Variant Present in the following documents:
Main text
View BVdb publication page